A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946039



Internal ID18592889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:86500973..86504780hg38UCSC Ensembl
Innerchr1:86966656..86970463hg19UCSC Ensembl
Innerchr1:86739244..86743051hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg383808
hg193808
hg183808
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1774752, nssv1774744, nssv1774746, nssv1774753, nssv1774748, nssv1774745, nssv1774747, nssv1774749, nssv1774750, nssv1774751
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946039
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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